title: Newborn hearing concurrent genetic screening for hearing impairment-a clinical practice in 58,397 neonates in Tianjin, China.
abstract: OBJECTIVE
  Newborn hearing screening (NHS) is used worldwide due to its feasibility and cost-efficiency. However, neonates with late-onset and progressive hearing impairment will be missed by NHS. Genetic factors account for an estimated 60% of congenital profound hearing loss. Our previous cohort studies were carried out in an innovative mode, i.e. hearing concurrent genetic screening, in newborns to improve the abilities or early diagnosis and intervention for the hearing defects. In this study, we performed the first clinical practice of this mode in Tianjin city.
  
  
  METHODS
  A large cohort of 58,397 neonates, born between December 2011 and December 2012, in 44 hospitals in Tianjin, were screened for 20 hot spot hearing loss associated mutations from GJB2, GJB3, SLC26A4 and MTRNR1(12S rRNA). The data of genetic screening results was comprehensively analyzed with newborn hearing screening (NHS) results.
  
  
  RESULTS
  We developed an accurate, high throughput genetic screening method and applied it to a total of 58,397 newborns in Tianjin. 3225 (5.52%) infants were detected to carry at least one mutation allele in GJB2, GJB3, SLC26A4 or MTRNR1. 34 (0.58‰) infants were positive for hearing loss caused by GJB2 or SLC26A4 mutations (homozygote or compound heterozygote). 54(0.93‰) infants are heterozygous of various genes. 109(1.87‰) infants had the pathological mitochondrial DNA mutation.
  
  
  CONCLUSIONS
  Accurate, comprehensive hearing loss associated genetic screening can facilitate genetic counseling and provides valuable prognostic information to affected infants. This united screening mode of this study was a promising clinical practice.
authors.affiliation: BGI-Tianjin, Tianjin, China; Tianjin Medical Genomics Technology Engineering Center, Tianjin, China.
authors.forename: Junqing
authors.initials: J
authors.lastname: Zhang
authors.forename: Peng
authors.initials: P
authors.lastname: Wang
authors.forename: Bing
authors.initials: B
authors.lastname: Han
authors.forename: Yibing
authors.initials: Y
authors.lastname: Ding
authors.forename: Lei
authors.initials: L
authors.lastname: Pan
authors.forename: Jing
authors.initials: J
authors.lastname: Zou
authors.forename: Haisheng
authors.initials: H
authors.lastname: Liu
authors.forename: Xinzhi
authors.initials: X
authors.lastname: Pang
authors.forename: Enqing
authors.initials: E
authors.lastname: Liu
authors.forename: Hongyue
authors.initials: H
authors.lastname: Wang
authors.forename: Hongyan
authors.initials: H
authors.lastname: Liu
authors.forename: Xudong
authors.initials: X
authors.lastname: Zhang
authors.forename: Xiu
authors.initials: X
authors.lastname: Cheng
authors.forename: Dafei
authors.initials: D
authors.lastname: Feng
authors.forename: Qian
authors.initials: Q
authors.lastname: Li
authors.forename: Dayong
authors.initials: D
authors.lastname: Wang
authors.forename: Liang
authors.initials: L
authors.lastname: Zong
authors.forename: Yuting
authors.initials: Y
authors.lastname: Yi
authors.forename: Ning
authors.initials: N
authors.lastname: Tian
authors.forename: Feng
authors.initials: F
authors.lastname: Mu
authors.forename: Geng
authors.initials: G
authors.lastname: Tian
authors.forename: Yaqiu
authors.initials: Y
authors.lastname: Chen
authors.forename: Gongshu
authors.initials: G
authors.lastname: Liu
authors.forename: Fuxia
authors.initials: F
authors.lastname: Zhang
authors.forename: Xin
authors.initials: X
authors.lastname: Yi
authors.forename: Ling
authors.initials: L
authors.lastname: Yang
authors.forename: Qiuju
authors.initials: Q
authors.lastname: Wang
mesh_terms: D002681:China / Q000453:epidemiology; D015331:Cohort Studies; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005820:Genetic Testing / Q000379:methods* / Q000706:statistics & numerical data; D034381:Hearing Loss / Q000175:diagnosis* / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics; D006320:Hearing Tests / Q000379:methods; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D015997:Neonatal Screening / Q000379:methods* / Q000706:statistics & numerical data; D016133:Polymerase Chain Reaction / Q000379:methods; D018570:Risk Assessment; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26; C068044:GJB3 protein, human
keywords: GJB2; GJB3; Genetic screening; MTRNR1; Newborn hearing screening; SLC26A4